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Largest study of whole genome sequencing data reveals ‘treasure trove’ of clues about causes of cancer

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DNA tests of thousands of tumors from NHS patients have uncovered a ‘treasure trove’ of signs of cancer causes, with genetic mutations that give a history of damage and repair to each patient. enter.

In a large-scale study of its kind, a team of scientists led by Professor Serena Nik-Zainal from Cambridge University Hospitals (CUH) and the University of Cambridge, examined the complete genetic structure or sequence of more than 12,000 patients with NHS cancer. .

Due to the large amount of information provided all series of genesResearchers have been able to uncover cancer markers in DNA — or ‘mutational signatures’ — that provide clues as to whether or not a patient has been diagnosed with cancer, such as smoking or UV light. , cellular inactivity. .

The team was also able to identify 58 new signatures, suggesting that there are additional risk factors for cancer that we still do not fully understand.

This study was supported by Cancer Research UK and published today in the journal Science. Genomic data are provided by 100,000 Genomes Project A UK clinical research effort to design a list of 100,000 genes from nearly 85,000 patients suffering from cancer or cancer.

Dr. Andrea Degasperi, a research consultant at the University of Cambridge and first author, said: in the NHS patients, and by doing so we have identified 58 new signatures and expanded our knowledge about cancer. “

Serena Nik-Zainal, a professor of medicine and biology at Cambridge University and an honorary consultant in anthropology at CUH said: “Why it is important to find a replacement is because they look like fingerprints a crime scene– help identify cancer patients. Some signature mutations have a clinical or therapeutic effect — they may highlight illnesses that may be targeted to specific medications or may indicate the potential for ‘Achilles’ disease’ in cancer patients.

“We were able to make a forensic research of more than 12,000 NHS cancer patients thanks to generous donations of products from patients and doctors across the UK. We also created FitMS, a computer tool to help scientists and doctors identify old and new replace signature in cancer patients, for the possibility of better reporting of cancer care. “

Michelle Mitchell, president of Cancer Research UK, said: “This study shows how genetic testing can be powerful in giving clues as to how cancer can develop, how it can be and what it does. treatment options it will work better. It is interesting that the insights gained through the NHS 100,000 Genomes Project could be used in the NHS to improve the treatment and care of cancer patients. “

Professor Matt Brown, chief technology officer of Genomics England said: “Mutational signatures are an example of taking full advantage of WGS. in the majority of our patients, with the ultimate goal of improving diagnosis and care cancer patients. ”


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Learn more:
Andrea Degasperi et al, Replacing the signature mutation in a list of cancers of the British public health system, Science (2022). DOI: 10.1126 / science.abl9283. www.science.org/doi/10.1126/science.abl9283

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Largest study of whole genome sequencing data reveals ‘treasure trove’ of clues about causes of cancer Source link Largest study of whole genome sequencing data reveals ‘treasure trove’ of clues about causes of cancer

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